rs33930165
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
- beta Thalassemia (BTHAL)Pathogenic · ★★ · germline
- Hb SS disease (SCD)Likely pathogenic · ★★ · germline
- Heinz body anemiaPathogenic · ★ · germline
- Beta-thalassemia HBB/LCRBPathogenic · ★ · germline
- Hereditary persistence of fetal hemoglobinPathogenic · ★ · germline
- Dominant beta-thalassemiaPathogenic · ★ · germline
- Hb SS disease (SCD)Pathogenic · ★ · germline
- Malaria, susceptibility toPathogenic · ★ · germline
- METHEMOGLOBINEMIA, BETA TYPEPathogenic · ★ · germline
- Erythrocytosis, familial, 6Pathogenic · ★ · germline
- Inherited hemoglobinopathyPathogenic · ★ · germline
- Inborn genetic diseasesPathogenic · ★ · germline
gnomAD allele frequency 3.79e-3
rs33930165 is a genetic variant located in the HBB gene. dbsnp · gene
In gnomAD, rs33930165 has an overall allele frequency of 0.38%. gnomad · frequency
In ClinVar, rs33930165 is classified as Pathogenic for beta Thalassemia (BTHAL) (2 review stars, germline; last evaluated 2019-11-15). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs33930165 is classified as Likely pathogenic for Hb SS disease (SCD) (2 review stars, germline; last evaluated 2023-12-11). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for Heinz body anemia (1 review star, germline; last evaluated 2024-04-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for Beta-thalassemia HBB/LCRB (1 review star, germline; last evaluated 2024-04-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for Hereditary persistence of fetal hemoglobin (1 review star, germline; last evaluated 2024-04-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for Dominant beta-thalassemia (1 review star, germline; last evaluated 2024-04-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for Hb SS disease (SCD) (1 review star, germline; last evaluated 2024-04-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for Malaria, susceptibility to (1 review star, germline; last evaluated 2024-04-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for METHEMOGLOBINEMIA, BETA TYPE (1 review star, germline; last evaluated 2024-04-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for Erythrocytosis, familial, 6 (1 review star, germline; last evaluated 2024-04-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for Inherited hemoglobinopathy (1 review star, germline; last evaluated 2023-11-10). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for Inborn genetic diseases (1 review star, germline; last evaluated 2023-10-13). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for alpha Thalassemia (1 review star, germline; last evaluated 2023-09-11). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for Sickle cell-hemoglobin C disease (1 review star, germline; last evaluated 2022-09-14). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for Dominant beta-thalassemia (1 review star; last evaluated 2021-06-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for Fetal hemoglobin quantitative trait locus 1 (HBFQTL1) (1 review star; last evaluated 2021-06-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for Heinz body anemia (1 review star; last evaluated 2021-06-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for Hb SS disease (SCD) (1 review star; last evaluated 2021-06-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for alpha Thalassemia (1 review star; last evaluated 2021-06-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for Malaria, susceptibility to (1 review star; last evaluated 2021-06-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for beta Thalassemia (BTHAL) (1 review star; last evaluated 2021-06-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for METHEMOGLOBINEMIA, BETA TYPE (1 review star; last evaluated 2021-06-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for Erythrocytosis, familial, 6 (1 review star; last evaluated 2021-06-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs33930165 is classified as Pathogenic for HBB-related disorder (1 review star, germline). clinvar · classificationclinvar · review confidenceclinvar · origin
In ClinVar, rs33930165 is classified as Pathogenic for HEMOGLOBIN C (0 review stars, germline; last evaluated 2011-12-02). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs33930165 is classified as Protective for Malaria, resistance to (0 review stars, germline; last evaluated 2011-12-02). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs33930165 is classified as other for HEMOGLOBIN ARLINGTON PARK (0 review stars, germline; last evaluated 2017-12-12). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs33930165 is classified as Likely pathogenic for not provided (2 review stars, germline; last evaluated 2025-03-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts 8e897d0be1b8e456 · meta/llama-3.1-8b-instruct · prompt 4.0.1 · schema 3.0.0
Educational information only — not medical advice, a diagnosis, or a clinical interpretation. A variant's significance can be uncertain, conflicting, or dependent on your full clinical and family context. Consult a qualified genetics professional or genetic counselor before drawing any conclusion.